Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intes... |
OMIM:251850 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... |
ORPHA:103909 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting |
ORPHA:313906 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Chronic Hiccup |
|
Malnutrition, Dehydration, Abnormal eating behavior |
ORPHA:396 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,... |
OMIM:617174 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... |
ORPHA:103907 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Inguinal hernia, Accessory oral frenulum |
ORPHA:1373 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... |
OMIM:261800 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... |
ORPHA:330012 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... |
OMIM:618011 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... |
ORPHA:1302 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... |
ORPHA:2004 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting, Dehydration |
OMIM:610370 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... |
ORPHA:2902 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding |
OMIM:606893 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties |
OMIM:610992 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... |
OMIM:616974 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate |
OMIM:273390 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Ch... |
OMIM:620233 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog... |
ORPHA:254361 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia |
OMIM:254120 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Urticaria, Polydipsia |
ORPHA:47045 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ... |
OMIM:300219 |
Thyroid Hemiagenesis |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95719 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia |
OMIM:617732 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... |
OMIM:614669 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi... |
ORPHA:137914 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Polydipsia |
ORPHA:178029 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Hernia |
ORPHA:75497 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia |
ORPHA:1918 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Decreased liver function, Dehydration |
OMIM:602199 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... |
OMIM:606824 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Restlessness, Abdominal pain, Abnormal ery... |
ORPHA:100924 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... |
ORPHA:95427 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... |
OMIM:620321 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Dehydration, Malabsorption |
ORPHA:83620 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Macroglossia |
OMIM:275100 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... |
OMIM:612292 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... |
OMIM:614608 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Prod... |
ORPHA:454836 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res... |
ORPHA:77260 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia |
OMIM:274400 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Neonatal respirato... |
OMIM:615042 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... |
ORPHA:2257 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration |
OMIM:616069 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p... |
OMIM:613544 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... |
OMIM:612776 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... |
OMIM:619611 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... |
OMIM:615834 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, E... |
ORPHA:79457 |
Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis |
OMIM:246400 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... |
ORPHA:2414 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... |
OMIM:600325 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis, Tented upper lip vermilion, Tracheomalacia |
ORPHA:896 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Arthrogryposis mult... |
OMIM:201550 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Long philtrum, Dehydration, Dysphagia |
OMIM:618958 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi... |
OMIM:613490 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology |
ORPHA:1516 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... |
ORPHA:199241 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Umbilical hernia |
ORPHA:2349 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration, Nasogastric tube feeding |
ORPHA:289504 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate |
OMIM:217150 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo... |
ORPHA:137834 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdomin... |
ORPHA:100085 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, ... |
OMIM:608104 |
Reticular Dysgenesis |
|
Diarrhea, Dehydration, Malabsorption |
ORPHA:33355 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Dehydration, Death in childhood, Thin ver... |
OMIM:214150 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Plantar... |
ORPHA:2872 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia |
OMIM:615297 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties |
ORPHA:79312 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, High, narrow palate |
ORPHA:2181 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... |
ORPHA:915 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas... |
OMIM:619793 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrop... |
ORPHA:298 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar... |
ORPHA:352490 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:28 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Respiratory insufficiency |
OMIM:600972 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... |
ORPHA:244 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Respiratory distress, Feeding difficulties |
OMIM:300934 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ... |
ORPHA:319213 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Short lingual frenulum, Dental crowding, Aggressive behavior... |
ORPHA:293939 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Malabsorption, Diarrhea, Dehydration, High palate |
ORPHA:33110 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Chronic constipation |
OMIM:300676 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Feeding difficulties in i... |
OMIM:613070 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Achondrogenesis |
|
Umbilical hernia, Inguinal hernia, Long philtrum |
ORPHA:932 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... |
ORPHA:90051 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea |
OMIM:240200 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting |
ORPHA:35710 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Camptodactyly |
OMIM:618786 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:333 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, High palate |
ORPHA:1035 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Apnea |
ORPHA:79097 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Feeding difficulties, Aminoaciduria, Vomiting |
OMIM:612075 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck |
OMIM:300580 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood |
OMIM:560000 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting, Aggressive behavior |
OMIM:237310 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:257200 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist... |
OMIM:613561 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Inguinal hernia |
ORPHA:2196 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Dehydration |
OMIM:264350 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... |
ORPHA:97230 |
Rin2 Syndrome |
|
Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um... |
ORPHA:217335 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Femoral hernia, Long philtrum |
ORPHA:93298 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru... |
OMIM:616579 |
Congenital Heart Block |
|
Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... |
OMIM:612938 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Bowel inc... |
ORPHA:365 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas |
OMIM:155145 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic... |
OMIM:130080 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Femoral hernia, Long philtrum |
ORPHA:93299 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Aggressive behavior |
ORPHA:85279 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Shigellosis |
|
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... |
ORPHA:810 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Feedin... |
OMIM:616733 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... |
ORPHA:1199 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdomin... |
OMIM:618528 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... |
OMIM:616977 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate |
ORPHA:1770 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... |
ORPHA:521219 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... |
OMIM:618529 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, Abdomina... |
OMIM:617156 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon... |
OMIM:601499 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Cystinosis |
|
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... |
ORPHA:258 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr... |
OMIM:278000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Dehydration, Feeding difficulties |
OMIM:177735 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Malaria |
|
Nausea and vomiting, Respiratory distress |
ORPHA:673 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95720 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... |
OMIM:620278 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... |
ORPHA:133 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m... |
ORPHA:2496 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... |
OMIM:618426 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia |
ORPHA:231144 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Harlequin Ichthyosis |
|
Eclabion, Self-injurious behavior, Dehydration |
ORPHA:457 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre... |
OMIM:211530 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Dehydration |
OMIM:602722 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist... |
ORPHA:2131 |
Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
Corticosterone Methyloxidase Type I Deficiency |
|
Feeding difficulties in infancy, Vomiting, Dehydration |
OMIM:203400 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... |
ORPHA:90003 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Luo-Schoch-Yamamoto Syndrome |
|
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... |
OMIM:619460 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia |
OMIM:304800 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum |
ORPHA:90653 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia |
ORPHA:95717 |
Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Flexion contracture |
ORPHA:87876 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis |
OMIM:601492 |
Intestinal Botulism |
|
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... |
ORPHA:178481 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal... |
ORPHA:369891 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Elevated gamma-gl... |
ORPHA:100086 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Recurrent acute respiratory tract inf... |
OMIM:620011 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Abdominal distention |
ORPHA:369 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... |
ORPHA:330015 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur... |
OMIM:616266 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:615595 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia |
OMIM:617662 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Inguinal hernia, High palate, Short philtrum |
OMIM:618354 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat... |
OMIM:269860 |
Opitz Gbbb Syndrome |
|
Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... |
OMIM:300000 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoes... |
ORPHA:63862 |
Double Outlet Right Ventricle |
|
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... |
ORPHA:3426 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Alv... |
OMIM:235255 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... |
OMIM:616638 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... |
ORPHA:73263 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, High palate, Congenital diaphragmatic hernia |
ORPHA:284180 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um... |
ORPHA:2963 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Feeding difficulties |
ORPHA:26792 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Recurrent pneum... |
OMIM:613177 |
Propionic Acidemia |
|
Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation, Vomiting |
OMIM:606054 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ... |
ORPHA:308552 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Dehydration |
OMIM:212140 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Thin vermilion border, Long philtrum |
ORPHA:171839 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognathia, Cyanotic epis... |
ORPHA:284417 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... |
ORPHA:343 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... |
ORPHA:3260 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors |
OMIM:618737 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Micrognathia, Jaundice, Dehydration, Oligohydramnios |
OMIM:208085 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... |
OMIM:215600 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties |
OMIM:620203 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... |
OMIM:230900 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal... |
ORPHA:2311 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Hereditary Hyperekplexia |
|
Umbilical hernia, Esophagitis, Hernia, Hiatus hernia |
ORPHA:3197 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ... |
OMIM:255800 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia |
OMIM:619769 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Diarrhea, Dehydration, Vomiting, Agitation, Oral aversion |
ORPHA:134 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Wide mouth, Abnormal up... |
ORPHA:2707 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb... |
ORPHA:329224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... |
OMIM:620275 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... |
ORPHA:538 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult... |
ORPHA:79113 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Increased circulat... |
ORPHA:93552 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant ... |
OMIM:200610 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia |
ORPHA:3079 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Restlessness, Abdomin... |
ORPHA:79276 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... |
OMIM:136760 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... |
ORPHA:137888 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... |
ORPHA:3392 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi... |
OMIM:105830 |
Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum |
ORPHA:2505 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia |
OMIM:618272 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Restlessness, Cyanosis, Gastrointestinal d... |
ORPHA:391428 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo... |
ORPHA:98915 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure |
OMIM:261680 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Aminoaciduria, Perio... |
ORPHA:534 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... |
ORPHA:254528 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... |
ORPHA:2038 |
Cantu Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ... |
OMIM:239850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:27 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:227810 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia |
ORPHA:3201 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum |
ORPHA:261295 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... |
ORPHA:335 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Feeding difficulties |
OMIM:143860 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung |
ORPHA:83469 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal distention, Jaundic... |
ORPHA:469 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Short philtrum, Feeding difficulties |
ORPHA:261304 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Polyhydramnios, Micrognathia, Nasogastric tube feeding in infancy, Gastroesoph... |
ORPHA:93316 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil... |
OMIM:615879 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... |
ORPHA:85321 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... |
OMIM:617102 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand |
OMIM:175700 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,... |
OMIM:202650 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... |
OMIM:557000 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... |
OMIM:106260 |
Cholera |
|
Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cramps, Vomiting, Pal... |
ORPHA:173 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Feeding d... |
OMIM:620157 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Dehydration, Feeding difficulties |
ORPHA:556030 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea... |
ORPHA:210136 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary... |
ORPHA:183 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Recurrent respirat... |
ORPHA:329178 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Dend Syndrome |
|
Downturned corners of mouth, Vomiting, Dehydration, Long philtrum |
ORPHA:79134 |
Meckel Syndrome 14 |
|
Microretrognathia, Cyanosis, Micrognathia, Abdominal distention, Increased nuchal translucency, P... |
OMIM:619879 |
Hydrolethalus |
|
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilater... |
ORPHA:2189 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Feeding diffi... |
OMIM:619383 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious teeth, Velopha... |
OMIM:129400 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Feeding difficulties |
OMIM:615597 |
Distal Deletion 19P |
|
Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids |
ORPHA:96129 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema |
OMIM:617300 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... |
ORPHA:245 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... |
OMIM:192430 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Lamellar Ichthyosis |
|
Everted lower lip vermilion, Dehydration, Abnormality of the dentition |
ORPHA:313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Generalized aminoaciduria, Vomiting, Pulmonary hypoplasia, Neonat... |
OMIM:231680 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabso... |
ORPHA:71 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia |
ORPHA:3304 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... |
ORPHA:537 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... |
ORPHA:192 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:348 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Vipoma |
|
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... |
ORPHA:97282 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Polyhydramnios, Dehydration |
OMIM:214700 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in... |
ORPHA:314655 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Atrophic scars,... |
OMIM:225410 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Micrognathia, Trismus, Dehydration, Feeding difficulties, Tube feeding |
OMIM:616271 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Everted lower lip vermilion,... |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Respiratory distress, High, narrow palate, Telangiectasia, Smooth ... |
OMIM:608799 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... |
ORPHA:275761 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Increased... |
ORPHA:370348 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
Icf Syndrome |
|
Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit... |
OMIM:618000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Carious teeth, Atelectasis, Respir... |
ORPHA:536467 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck |
ORPHA:1145 |
Amish Lethal Microcephaly |
|
Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Amme Complex |
|
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti |
OMIM:300194 |
Bronchial Neuroendocrine Tumor |
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Pneumonia, Poor appetite, Anorexia, Bowel urgency, Nonproductive cough, Dyspnea, Asthma, Wheezing... |
ORPHA:97287 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... |
OMIM:604377 |
Pancreatoblastoma |
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Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting |
ORPHA:677 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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